Incidental Mutation 'R2274:Ghr'
| ID |
245002 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ghr
|
| Ensembl Gene |
ENSMUSG00000055737 |
| Gene Name |
growth hormone receptor |
| Synonyms |
GHR/BP, GHBP |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2274 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
3347237-3612834 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3349507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 557
(V557A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069451]
[ENSMUST00000161561]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069451
AA Change: V557A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000069457
Gene: ENSMUSG00000055737
AA Change: V557A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
3.6e-12 |
PFAM |
|
FN3
|
159 |
249 |
3.99e0 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Pfam:GHBP
|
325 |
636 |
2.1e-110 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161561
AA Change: V557A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000124064
Gene: ENSMUSG00000055737
AA Change: V557A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EpoR_lig-bind
|
43 |
152 |
3.6e-12 |
PFAM |
|
FN3
|
159 |
249 |
3.99e0 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
Pfam:GHBP
|
325 |
628 |
1.8e-132 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
A |
T |
11: 99,728,667 (GRCm39) |
C59S |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,166,107 (GRCm39) |
N1556K |
possibly damaging |
Het |
| Abcb10 |
G |
T |
8: 124,709,491 (GRCm39) |
A21E |
probably benign |
Het |
| Ackr1 |
T |
C |
1: 173,160,052 (GRCm39) |
N156D |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,255,766 (GRCm39) |
S1593C |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,786,772 (GRCm39) |
|
probably null |
Het |
| Aqp4 |
A |
G |
18: 15,526,537 (GRCm39) |
S315P |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,510,848 (GRCm39) |
I433V |
probably benign |
Het |
| Bco1 |
G |
A |
8: 117,835,522 (GRCm39) |
|
probably null |
Het |
| Cacna1g |
T |
A |
11: 94,306,762 (GRCm39) |
E1842V |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,145,986 (GRCm39) |
Q73L |
probably damaging |
Het |
| Car5a |
C |
T |
8: 122,671,408 (GRCm39) |
|
probably null |
Het |
| Cdk11b |
T |
A |
4: 155,732,051 (GRCm39) |
|
probably benign |
Het |
| Cdr2 |
A |
T |
7: 120,557,732 (GRCm39) |
H264Q |
possibly damaging |
Het |
| Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Dnlz |
A |
T |
2: 26,241,483 (GRCm39) |
C82S |
probably damaging |
Het |
| Egr4 |
A |
T |
6: 85,489,725 (GRCm39) |
F112I |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,705,184 (GRCm39) |
D119G |
possibly damaging |
Het |
| Fat4 |
T |
A |
3: 39,050,048 (GRCm39) |
V3970D |
possibly damaging |
Het |
| Fbxw5 |
C |
A |
2: 25,394,773 (GRCm39) |
C222* |
probably null |
Het |
| Fn1 |
C |
T |
1: 71,653,102 (GRCm39) |
G1296R |
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,749,070 (GRCm39) |
S92G |
unknown |
Het |
| Gpatch1 |
A |
T |
7: 34,988,103 (GRCm39) |
S678T |
probably benign |
Het |
| Gpr155 |
A |
G |
2: 73,178,479 (GRCm39) |
|
probably null |
Het |
| Gucy2f |
A |
T |
X: 140,899,269 (GRCm39) |
M697K |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,520,653 (GRCm39) |
T195A |
probably benign |
Het |
| Hoxd1 |
A |
G |
2: 74,594,501 (GRCm39) |
K252R |
probably damaging |
Het |
| Iqck |
G |
A |
7: 118,498,880 (GRCm39) |
D173N |
possibly damaging |
Het |
| Irf8 |
A |
G |
8: 121,480,266 (GRCm39) |
E168G |
probably damaging |
Het |
| Kcnh1 |
T |
G |
1: 192,019,829 (GRCm39) |
V358G |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,696,327 (GRCm39) |
V652D |
possibly damaging |
Het |
| L3hypdh |
T |
C |
12: 72,131,632 (GRCm39) |
Y100C |
possibly damaging |
Het |
| Map4k1 |
T |
A |
7: 28,701,382 (GRCm39) |
H729Q |
probably damaging |
Het |
| Marchf1 |
T |
A |
8: 66,840,151 (GRCm39) |
N311K |
probably benign |
Het |
| Mier2 |
T |
C |
10: 79,380,368 (GRCm39) |
I321V |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,091,770 (GRCm39) |
S291L |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,081,184 (GRCm39) |
K1267E |
possibly damaging |
Het |
| Nbea |
A |
T |
3: 55,895,506 (GRCm39) |
|
probably null |
Het |
| Nexmif |
T |
G |
X: 103,131,452 (GRCm39) |
E155A |
possibly damaging |
Het |
| Nkpd1 |
A |
G |
7: 19,257,822 (GRCm39) |
I534V |
probably benign |
Het |
| Nxph1 |
G |
T |
6: 9,247,746 (GRCm39) |
C239F |
probably damaging |
Het |
| Odc1 |
A |
G |
12: 17,598,425 (GRCm39) |
I189V |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,113 (GRCm39) |
N82K |
probably damaging |
Het |
| Or2t44 |
T |
C |
11: 58,677,492 (GRCm39) |
V144A |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,055,167 (GRCm39) |
F70L |
probably benign |
Het |
| Or6c35 |
T |
C |
10: 129,169,326 (GRCm39) |
I192T |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,608,496 (GRCm39) |
L576P |
probably damaging |
Het |
| Raph1 |
T |
C |
1: 60,537,659 (GRCm39) |
D499G |
probably damaging |
Het |
| Rptor |
T |
A |
11: 119,647,148 (GRCm39) |
C246* |
probably null |
Het |
| Rtl1 |
T |
C |
12: 109,561,101 (GRCm39) |
E246G |
unknown |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Slc12a3 |
T |
A |
8: 95,059,915 (GRCm39) |
I187N |
possibly damaging |
Het |
| Slc46a1 |
T |
G |
11: 78,357,249 (GRCm39) |
S101A |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,705,283 (GRCm39) |
M830V |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,209,364 (GRCm39) |
|
probably null |
Het |
| St3gal6 |
T |
A |
16: 58,309,332 (GRCm39) |
E34D |
possibly damaging |
Het |
| Tcstv3 |
C |
T |
13: 120,779,190 (GRCm39) |
Q30* |
probably null |
Het |
| Tex16 |
T |
A |
X: 111,030,838 (GRCm39) |
D1112E |
probably damaging |
Het |
| Tmcc3 |
G |
A |
10: 94,414,777 (GRCm39) |
V160I |
probably damaging |
Het |
| Tmf1 |
T |
A |
6: 97,140,547 (GRCm39) |
L776F |
probably damaging |
Het |
| Tsr1 |
A |
T |
11: 74,795,653 (GRCm39) |
|
probably null |
Het |
| Tyrp1 |
A |
T |
4: 80,755,771 (GRCm39) |
E180V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,846,685 (GRCm39) |
V1636A |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,818,079 (GRCm39) |
L139P |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 21,134,465 (GRCm39) |
L45P |
probably benign |
Het |
| Vmn1r49 |
G |
A |
6: 90,049,126 (GRCm39) |
T292I |
probably benign |
Het |
| Wdr19 |
T |
A |
5: 65,398,334 (GRCm39) |
M853K |
possibly damaging |
Het |
| Zkscan8 |
C |
T |
13: 21,705,966 (GRCm39) |
M265I |
probably benign |
Het |
|
| Other mutations in Ghr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Ghr
|
APN |
15 |
3,357,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01366:Ghr
|
APN |
15 |
3,349,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Ghr
|
APN |
15 |
3,362,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01730:Ghr
|
APN |
15 |
3,350,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01908:Ghr
|
APN |
15 |
3,349,929 (GRCm39) |
nonsense |
probably null |
|
|
IGL02396:Ghr
|
APN |
15 |
3,487,480 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
IGL02476:Ghr
|
APN |
15 |
3,349,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Ghr
|
APN |
15 |
3,357,584 (GRCm39) |
nonsense |
probably null |
|
|
IGL03338:Ghr
|
APN |
15 |
3,377,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Elfin
|
UTSW |
15 |
3,370,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
garden
|
UTSW |
15 |
3,377,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
gnome
|
UTSW |
15 |
3,418,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0334:Ghr
|
UTSW |
15 |
3,370,580 (GRCm39) |
splice site |
probably benign |
|
|
R0387:Ghr
|
UTSW |
15 |
3,349,373 (GRCm39) |
missense |
probably benign |
|
|
R0581:Ghr
|
UTSW |
15 |
3,418,116 (GRCm39) |
splice site |
probably benign |
|
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1185:Ghr
|
UTSW |
15 |
3,357,544 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1216:Ghr
|
UTSW |
15 |
3,349,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1294:Ghr
|
UTSW |
15 |
3,418,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1607:Ghr
|
UTSW |
15 |
3,350,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Ghr
|
UTSW |
15 |
3,349,723 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2006:Ghr
|
UTSW |
15 |
3,357,464 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2197:Ghr
|
UTSW |
15 |
3,362,956 (GRCm39) |
nonsense |
probably null |
|
|
R2332:Ghr
|
UTSW |
15 |
3,349,891 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4283:Ghr
|
UTSW |
15 |
3,362,930 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4519:Ghr
|
UTSW |
15 |
3,362,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4521:Ghr
|
UTSW |
15 |
3,355,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4714:Ghr
|
UTSW |
15 |
3,349,879 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4717:Ghr
|
UTSW |
15 |
3,349,235 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4724:Ghr
|
UTSW |
15 |
3,355,422 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5087:Ghr
|
UTSW |
15 |
3,349,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Ghr
|
UTSW |
15 |
3,349,561 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5429:Ghr
|
UTSW |
15 |
3,418,157 (GRCm39) |
nonsense |
probably null |
|
|
R6012:Ghr
|
UTSW |
15 |
3,370,409 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6135:Ghr
|
UTSW |
15 |
3,355,447 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6588:Ghr
|
UTSW |
15 |
3,349,750 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7069:Ghr
|
UTSW |
15 |
3,349,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7074:Ghr
|
UTSW |
15 |
3,362,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Ghr
|
UTSW |
15 |
3,377,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7540:Ghr
|
UTSW |
15 |
3,349,396 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7575:Ghr
|
UTSW |
15 |
3,349,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7822:Ghr
|
UTSW |
15 |
3,487,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7922:Ghr
|
UTSW |
15 |
3,370,556 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8221:Ghr
|
UTSW |
15 |
3,362,901 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9041:Ghr
|
UTSW |
15 |
3,357,530 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9074:Ghr
|
UTSW |
15 |
3,370,470 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9467:Ghr
|
UTSW |
15 |
3,357,506 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9579:Ghr
|
UTSW |
15 |
3,349,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9605:Ghr
|
UTSW |
15 |
3,362,993 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9642:Ghr
|
UTSW |
15 |
3,355,469 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0017:Ghr
|
UTSW |
15 |
3,350,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ghr
|
UTSW |
15 |
3,349,694 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Ghr
|
UTSW |
15 |
3,376,967 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTATAAGGCCCCTTGGAGAC -3'
(R):5'- GAGTAATCCCACATCACTGGC -3'
Sequencing Primer
(F):5'- AGACTGCACGGTGTGAACC -3'
(R):5'- GACTTTTATGCCCAAGTAAGCGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation